Clinical and Laboratory Genetic Counselor Attitudes on the Reporting of Variants of Uncertain Significance for Multigene Cancer Panels

4.24.2023

Research suggests variants of uncertain significance (VUSs) present a variety of challenges for genetic counselors (GCs), nongenetics clinicians, and patients. Multigene cancer panels reveal more VUSs than single gene testing as a result of the increase in the number of genes being tested. This study surveyed 87 clinical cancer GCs involved with direct patient care and 19 laboratory GCs who provide guidance to clinicians regarding genetic test results about their attitudes on various options for the reporting of VUSs by laboratories for broad multigene cancer panels. Independent samples t-tests were utilized to compare the two groups. Based on a six-point Likert-type scale (1 = Strongly Disagree to 6 = Strongly Agree), clinical cancer GCs (M = 5.4; SD = 0.8) and laboratory GCs (M = 5.2; SD = 0.9) agreed overall that VUSs should be reported (p = 0.44; Cohen's d = 0.21). When asked about specific reporting options, both clinical cancer GCs (M = 1.9; SD = 1.1) and laboratory GCs (M = 2.1; SD = 1.4) disagreed that VUSs should be reported only for genes related to the indication for testing (p = 0.50; Cohen's d = 0.17). Overall, most GCs felt clinicians should not choose whether VUSs should be reported on genetic test results, with clinical cancer GCs (M = 1.9; SD = 1.3) feeling more strongly against it than laboratory GCs (M = 3.1; SD = 1.4; p = 0.002; Cohen's d = 0.88). Generally, GCs were more in favor of VUSs not being reported for population-based screening, with laboratory GCs (M = 4.7; SD = 0.8) agreeing more with that practice than clinical cancer GCs (M = 3.7; SD = 1.4; p = 0.001; Cohen's d = 0.80). Both clinical cancer GCs (M = 4.1; SD = 1.2) and laboratory GCs (M = 3.9; SD = 1.2) agreed additional guidelines on how to approach VUSs in clinical practice should be developed (p = 0.54; Cohen's d = 0.17). While most GCs supported the reporting of VUSs overall, our analyses suggest clinical cancer and laboratory GCs may have different attitudes toward specific VUS-related reporting options. Further research is needed to elucidate GC preferences to help inform best practices for the reporting of VUSs. The development of additional standardized guidelines on how to approach VUSs would further support clinical practice.

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Role of Psychological Background in Cancer Susceptibility Genetic Testing Distress: It is Not Only about a Positive Result

4.24.2023

Clinical and familial factors predict psychological distress after genetic testing for cancer susceptibility. However, the contribution of an individual's psychological background to such distress is unclear. This study aims to analyze the psychological impact of genetic testing and to identify the profile of individuals at higher risk. This is a longitudinal multicenter study of individuals undergoing genetic testing for cancer susceptibility. Demographic, clinical, genetic, familial, and psychological (personality types, cancer worry) characteristics were assessed by validated questionnaires the day of genetic testing. Distress, uncertainty, and positive experience perception (MICRA scale) were evaluated at the results disclosure visit, and 3 and 12 months afterwards. Multivariate analysis was performed. A total of 714 individuals were included. A high neuroticism score, high baseline cancer worry, and a positive genetic test result were independently associated with higher psychological impact (p-value < 0.05). The highest risk profile (10% of the cohort) included women with high level of neuroticism and a positive result. Uncertainty was mainly associated with a high level of neuroticism, regardless of the genetic test result. A holistic approach to personalized germline genetic counseling should include the assessment of personality dimensions.

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Measuring High-risk Parents' Opinions about Direct-to-onsumer Genetic Testing for Adult-onset Inherited Cancer Syndromes in their Adolescent and Young Adult Children

4.24.2023

Neither direct-to-consumer (DTC) genetic testing nor predictive genetic testing for adult-onset conditions is recommended for minor children due to ethical concerns and low clinical utility. However, parents with pathogenic variants (PVs) in disease-causing genes may be interested in pursuing genetic testing that includes the familial PV for their children. The Pediatric Testing Attitudes Scale (P-TAS) was previously developed to examine high-risk parents' opinions about pediatric BRCA genetic testing for adult-onset breast/ovarian cancer. Here, the psychometric properties of the P-TAS were examined in a new sample of N = 126 parents (M age = 47.2 years) with PVs in a more complete set of cancer risk genes represented on DTC panel tests. The mean score on the P-TAS was 44 out of a maximum score of 60, indicating that a majority of parents generally held favorable opinions about testing their children for adult-onset inherited cancer syndromes. The internal consistency of the full scale was high (α = 0.91). A factor analysis identified two-component scales, labeled Attitudes and Beliefs (α = 0.93) and Decision Making and Communication (α = 0.83). In a multivariable regression model, P-TAS co-factors accounted for 34% of variance in parental opinions, including the frequency of prior family communication about cancer and the likelihood of utilizing DTC genetic testing with children (R² = 0.34, p < 0.001). Results suggest that the P-TAS remains a reliable measure to assess high-risk parents' opinions about pediatric DTC genetic testing for adult-onset conditions, with promising validity. Applications of the P-TAS include informing genetic counseling practice, pediatric medical care, and policy guidelines surrounding DTC genetic testing.

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Reproductive Deliberation: Supporting Autonomous Decision Making in Prenatal Genetic Counseling

4.24.2023

As both the scope and popularity of non-invasive prenatal testing (NIPT) have expanded, debate has emerged about the extent to which this test enhances or undermines reproductive autonomy. Genetic counseling is crucial to support autonomy in the context of making complex and value-laden decisions about reproductive care following high-chance results from NIPT. Two models of post-test prenatal genetic counseling have been proposed; the first of these, non-directive counseling, is the predominant model, while shared decision making is an alternative model deriving from patient care for chronic conditions. In this paper, we argue that neither of these approaches is adequate for counseling after NIPT to support reproductive autonomy. Instead, then, we propose an alternative approach that we call reproductive deliberation. This approach to prenatal genetic counseling simultaneously recognizes the relationality of the counseling encounter and supports the decision making capacity and decisional responsibility of the pregnant person.

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Searching for Secrets, Searching for Self: Childhood Adersity, Self-concept Clarity, and the Motivation to Uncover Family Secrets Through Direct-to-consumer Genetic Testing

4.24.2023

Direct-to-consumer (DTC) genetic tests have become an attractive product for those hoping to gain insight into their health, ancestry, and biological relatedness. In some cases, test results are unexpected, and lead to the revelation of previously undisclosed family secrets. A subset of individuals may pursue testing explicitly for this purpose; however, the psychosocial processes underlying this motivation remain unexamined. Grounded in the literature on family secrecy, trauma, and the development of self-concept, we tested a hypothesized mediation model to provide insight into this motivation among a sample of 433 individuals in pursuit of DTC genetic testing. In line with the documented association between maladaptive family communication patterns and trauma exposure in childhood, we found that exposure to adverse childhood experiences was associated with the motivation to pursue DTC genetic testing for the purpose of uncovering family secrets. We also found evidence of an indirect effect through reduced self-concept clarity. These findings suggest that impaired identity formation processes may have played a role in transmitting the effect. Furthermore, the findings highlight a novel way in which family histories may contribute to DTC genetic testing motivations. Future examination of these and other psychosocial phenomena that contribute to DTC genetic testing will be crucial to consider as the tests become increasingly accessible, and as the information they can provide becomes increasingly comprehensive. Findings from this line of research could help to identify for whom and under what conditions DTC genetic testing benefits well-being, and the conditions under which the act of testing and receipt of results could have adverse psychosocial effects. These insights will be of interest to genetic counselors working in the field of DTC genetic testing, and those working with individuals and families affected by unexpected test results.

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Something to Chat About: An Analysis of Genetic Counseling via Asynchronous Messaging Following Direct-to-consumer Genetic Testing

4.24.2023

Advances in technology, decreasing cost of genetic testing, and growing public interest in genetics marked by an increased uptake of genetic testing, particularly direct-to-consumer genetic testing (DTC-GT), have led to an overwhelming demand for genetic counseling services. As such, various alternative service delivery models have been proposed to increase access to genetic counseling. Some service delivery models, such as asynchronous messaging, remain unexplored in the genetic counseling literature. The purpose of this study was to assess communication during genetic counseling for DTC-GT through asynchronous messaging. A thematic analysis was conducted on 34 de-identified chat transcripts between genetic counselors and clients who underwent DTC-GT. Six categories of communication were identified and were grouped based on communication sources from either the client or the genetic counselor. Categories observed in client communication were motivations for seeking DTC testing and/or genetic counseling services, questions posed to the genetic counselor, responses provided during the session, and psychosocial aspects of the session related to the clients' mental, emotional, social, and spiritual needs. Categories of communication that emerged from the genetic counselors' communications were educational aspects of the session and counseling strategies to address concerns that are not related to educational or informational needs. Most clients had specific questions about variants detected or specific conditions. Many clients asked about appropriate subsequent steps related to additional testing or medical management. Genetic counselors discussed the limitations of DTC-GT and recommendations for clinical grade testing in almost all chat transcripts. In several chats, the genetic counselor provided advice to the client related to minimizing time sorting through likely benign results and refraining from altering medical management. Results suggest that genetic counselors are able to provide genetic information to clients and respond to their mental and emotional needs through asynchronous chat following DTC-GT. Findings from this study provide initial insight into a unique genetic counseling delivery model and reveal the informational and counseling needs of clients following DTC-GT.

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Noninvasive Prenatal Screening (NIPS) Results for Participants of the eXtraordinarY Babies Study: Screening, Counseling, Diagnosis, and Discordance

4.17.2023

Sex chromosome aneuploidies (SCAs), including 47,XXY, 47,XXX, 47,XYY, and supernumerary variants, occur collectively in approximately one of 500 live births. Clinical phenotypes are highly variable resulting in previous ascertainment rates estimated to be only 10%–25% during a lifetime. Historically, prenatal SCA diagnoses were incidental findings, accounting for ≤10% of cases, with the majority of diagnoses occurring postnatally during evaluations for neurodevelopmental, medical, or infertility concerns. The initiation of noninvasive prenatal screening (NIPS) in 2012 and adoption into standardized obstetric care provides a unique opportunity to significantly increase prenatal ascertainment of SCAs. However, the impact NIPS has had on ascertainment of SCAs is understudied, particularly for those who may defer diagnostic testing until after birth. This study evaluates the timing of diagnostic testing following positive NIPS in 152 infants with SCAs and potential factors influencing this decision. Eighty-seven (57%) elected to defer diagnostic testing after a positive NIPS until birth, and 8% (7/87) of those confirmed after birth were found to have discordant results on postnatal diagnostic testing, most of which would have influenced genetic counseling.

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Effects of Genetic Counselor Disabilities on their Professional Experiences: A Qualitative Investigation of North American Counselors' Perceptions

4.17.2023

The National Society of Genetic Counselors' policies recognize the value of diversity in the profession. Yet North American genetic counselors are very homogeneous with respect to self-identified disabilities. One step towards diversifying the profession is understanding the experiences of genetic counselors who have disabilities. This is the first study to specifically explore academic and professional experiences of genetic counselors who self-identify as having a disability and their perceptions of whether/how their disability has played a role in their experiences. Participants were recruited through an online screening survey sent via NSGC and American Board of Genetic Counseling e-blasts. Twenty-four respondents who met eligibility criteria and provided contact information participated in individual semi-structured phone interviews. Questions explored challenges and supports, interactions with others, and effects of disability on career development. Inductive analysis yielded three themes: Disability Affects Career Choices, Disability Poses Unique Career Supports and Challenges, and Disability Affects Professional Functioning in Various Ways, and seven domains (major topics within themes). Experiences included, among others, counselors must balance their disability (e.g., management, treatment) with work and/or academic demands; they desire open communication around disability and accommodation needs; disability enhances their ability to empathize with patients; countertransference is prevalent; positive and negative interactions, respectively, contribute to feelings of inclusion and exclusion; a clinicalized healthcare culture views persons with disabilities as symptoms and not individuals, and subtle stigma and discrimination exist and is perceived as possibly worse for counselors whose disabilities are not visible. Understanding academic and professional experiences of genetic counselors with disabilities and efforts to improve access and supports may promote a more inclusive environment and help to diversify the profession.

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The Experiences of Adolescent Siblings of Children with Rare Genetic Conditions: “It's made me who I am”

4.17.2023

Childhood genetic conditions impact not only the child who is diagnosed but also the day-to-day lives of all members of a family. However, our understanding of the perspectives and needs of unaffected adolescents in families affected by rare genetic conditions is limited. To address this gap, we conducted semi-structured interviews with 10 participants aged 14–20 years, all of whom had a sibling with a rare genetic condition. An interpretive description approach was used to develop a framework that described how participants' experiences of having a sibling with a rare genetic condition shaped the formation of their identity. This experience influenced identity formation both directly, and indirectly through four other phenomena: (1) normalization, of both their own experiences and their siblings' differences; (2) knowledge seeking, regarding their sibling's condition and what uncertainties remained; (3) caretaking, which limited some opportunities and was associated with uncertainty around the future; and (4) social experience, including their relationship with their affected sibling, with their peers, and with the rest of their family participants felt that they were isolated and lacked appropriate supports. The results of this study can help to inform a family-centered approach to genetic counseling and highlight the importance of tailored supports for this population.

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Experiences of Receiving an Increased Chance of Sex Chromosome Aneuploidy Result from Non-Invasive Prenatal Testing in Australia: “A more complicated scenario than what I had ever realized”

4.17.2023

Many non-invasive prenatal testing (NIPT) platforms screen for sex chromosome aneuploidy (SCA) and SCA analysis is generally included in Australia where NIPT is available as a self-funded test. Little is known about the experience of receiving an NIPT result indicating an increased chance of SCA. This study aimed to explore the experiences of people who received this result and their perspectives on the information, care, and support they received from healthcare practitioners (HCPs). Semi-structured interviews were conducted with people who received an NIPT result indicating an increased chance of SCA and continued their pregnancy. Most participants only had contact with a genetic counselor after receiving their result. Transcribed data were analyzed using rigorous thematic analysis to identify important patterns and themes. Participants (18 women, 2 male partners) described embarking on NIPT, primarily based on advice from their HCP and without much consideration. Consequently, participants expressed feeling unprepared for the unanticipated complexity of their NIPT result and were faced with making a time-sensitive decision about a condition they had not previously considered. While more pre-test information was desired, timely access to genetic counseling post-test assisted with adjustment to the result. These findings suggest that routinization of NIPT may be compromising informed decision-making, resulting in unpreparedness for an increased chance result. Given the increasing uptake and expanding scope of NIPT, resources should be dedicated to educating HCPs offering NIPT and ensuring timely access to genetic counseling post-result. With appropriate funding, genetics services may be able to play a central role in offering information and support to both people who undertake NIPT and their HCPs ordering the testing. Implementing a publicly funded screening program in Australia could assist with standardizing prenatal screening care pathways and consequently better access to appropriate resources.

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